Source: ALL
Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		144 114 70 0.20 7 3.7E-02
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		80 53 43 0.13 6 4.6E-02
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		28 128 8 2.6E-02 6 2.9E-02
CUI: C4748840
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33 		2 6 2 7.0E-03 6 7.1E-02
CUI: C0004134
Disease: Ataxia
Ataxia 		868 68 106 0.10 5 3.4E-02
CUI: C0036572
Disease: Seizures
Seizures 		2152 553 119 5.1E-02 5 7.9E-03
CUI: C3276549
Disease: OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY
OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY 		14 22 4 1.4E-02 5 5.0E-02
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		441 120 40 5.8E-02 4 2.0E-02
CUI: C0338508
Disease: Optic Atrophy 1
Optic Atrophy 1 		117 45 19 5.0E-02 4 3.2E-02
CUI: C1836439
Disease: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3 		1 18 1 3.5E-03 4 4.1E-02
CUI: C1843851
Disease: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 		4 15 2 7.0E-03 4 4.2E-02
CUI: C3888962
Disease: POLG mutation
POLG mutation 		3 7 3 1.1E-02 4 4.6E-02
CUI: C4225153
Disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 		1 27 1 3.5E-03 4 3.7E-02
CUI: C0014544
Disease: Epilepsy
Epilepsy 		1215 339 55 3.8E-02 3 7.1E-03
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		783 111 80 8.1E-02 3 1.6E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 86 7.4E-02 3 4.5E-03
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		457 64 91 0.14 3 2.1E-02
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		536 87 73 9.8E-02 3 1.8E-02
CUI: C0162672
Disease: MERRF Syndrome
MERRF Syndrome 		51 13 28 9.1E-02 3 3.2E-02
CUI: C1834846
Disease: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 		5 13 5 1.8E-02 3 3.2E-02
CUI: C3150914
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) 		2 17 1 3.5E-03 3 3.1E-02
CUI: C3554067
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11 		1 6 1 3.5E-03 3 3.4E-02
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		595 57 79 9.9E-02 2 1.4E-02
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		208 136 23 4.9E-02 2 9.2E-03
CUI: C0033377
Disease: Ptosis
Ptosis 		607 12 76 9.3E-02 2 2.1E-02